CFTR c.160G>T ;(p.E54*)

Variant ID: 7-117144413-G-T

NM_000492.3(CFTR):c.160G>T;(p.E54*)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Identification of 99% of CFTR gene mutations in Bulgarian-, Bulgarian Turk-, and Roma cystic fibrosis patients.

Molecular Genetics & Genomic Medicine
Petrova, Guergana G; Yaneva, Nadezhda N; Hrbková, Jana J; Libik, Malgorzata M; Savov, Alexey A; Macek, Milan M
Publication Date: 2019-08

Variant appearance in text: CFTR: 160G>T; E54*
PubMed Link: 31245908
Variant Present in the following documents:
  • Main text
  • MGG3-7-e696.pdf
View BVdb publication page